GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
111	Central core myopathy Autosomal dominant	Neuromuscular disorders	RYR1 ryanodine receptor 1	Reports Updated as of Nov 30, 2023	PubMed
112	Cerebellar ataxia-hypogonadism syndrome Autosomal recessive	Multisystemic disorders	RNF216 ring finger protein 216	Reports Updated as of Feb 01, 2025	PubMed
113	Cerebrooculofacioskeletal syndrome 2 Autosomal recessive	Multisystemic disorders	ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit	Reports Updated as of Feb 26, 2025	PubMed
114	Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant	Neuromuscular disorders	HSPB1 heat shock protein family B (small) member 1	Reports Updated as of Jun 12, 2025	PubMed
115	Charcot-Marie-Tooth disease axonal type 2S Autosomal recessive	Neuromuscular disorders	IGHMBP2 immunoglobulin mu DNA binding protein 2	Reports Updated as of Jun 12, 2025	PubMed
116	Charcot-Marie-Tooth disease type 4C Autosomal recessive	Neuromuscular disorders	SH3TC2 SH3 domain and tetratricopeptide repeats 2	Reports Updated as of Jun 12, 2025	PubMed
117	Charcot-Marie-Tooth disease type 4D Autosomal recessive	Neuromuscular disorders	NDRG1 N-myc downstream regulated 1	Reports Updated as of Jun 12, 2025	PubMed
118	Charcot-Marie-Tooth disease type 4F Autosomal recessive	Neuromuscular disorders	PRX periaxin	Reports Updated as of Jun 12, 2025	PubMed
119	Charcot-Marie-Tooth disease type 4H Autosomal recessive	Neuromuscular disorders	FGD4 FYVE, RhoGEF and PH domain containing 4	Reports Updated as of Jun 12, 2025	PubMed
120	Charcot-Marie-Tooth disease type 4J Autosomal recessive	Neuromuscular disorders	FIG4 FIG4 phosphoinositide 5-phosphatase	Reports Updated as of Jun 12, 2025	PubMed

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